Nine mutations in the cystic fibrosis (CF) gene account for 80% of the CF chromosomes in French patients
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1991.tb03080.x/fullpdf
Reference23 articles.
1. Invited editorial: carrier screening for cystic fibrosis;Beaudet;Am. J. Hum. Genet.,1990
2. Frequency of the ΔF508 mutation in a sample of 175 Italian cystic fibrosis patients;Cremonesi;Hum. Genet.,1990
3. A child, homozygous for a stop codon in exon 11, shows rather mild cystic fibrosis symptoms compared to her heterozygous nephew;Cuppens;J. Med. Genet.,1990
4. A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein;Cutting;Nature,1990
5. Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients;Dean;Cell,1990
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2. Genetic intervention in human beings;Transgenic Organisms;1996
3. Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency;Human Mutation;1995
4. Proton magnetic resonance spectroscopy of human amniotic fluids sampled at 17–18 weeks of pregnancy in cases of decreased digestive enzyme activities and detected cystic fibrosis;Clinical Biochemistry;1994-12
5. Oncogene-mediated propagation of tracheal epithelial cells from two cystic fibrosis fetuses with different mutations. Characterization of CFT-1 and CFT-2 cells in culture;European Journal of Clinical Investigation;1993-03
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